A rapid genetic test will help identify a new cause of mitochondrial diseases. The discovery comes from a team of doctors and scientists from the Wellcome Center for Mitochondrial Research at Newcastle University. The researchers identified the genetic mutation in four children, all with problems in the NDUFA6 protein complex.

Mitochondrial diseases are genetic conditions that affect the mitochondria, the "batteries" of cells. Symptoms include muscle weakness, blindness, deafness, diabetes, heart problems. Unfortunately there is no resolution therapy and many patients die in infancy.

The researchers used a genetic test to identify a genetic variant that affects the NDUFA6 protein. This is essential for the proper functioning of the mitochondria. Understanding how the variants act on it is essential to diagnose and combat the disease. If there were already cases in the family, it could be the basis for pre-implantation genetic tests and prenatal diagnosis tests.

For the moment there is no cure for the effects of this genetic variant. On the other hand, Professor Rob Taylor already talks about the genetic test for diagnostic purposes. The discovery will make the current tests more precise, improving the understanding of the disease and giving at least an answer to different families. In addition, it will help to prevent the recurrence of the disease in families who have already suffered a bereavement.

The theme of prenatal and pre-implantation diagnostics is very dear to families with a sick child. In fact, these parents have a 25% chance of transmitting the same disease to the next child. A devastating awareness that a genetic test could fight.

Source: medicalxpress.com

Researchers at the New York Genome Center (NYGC) and Columbia University have discovered why some people with a genetic mutation get sick and others do not. Behind the phenomenon there would be a molecular mechanism, which influences the appearance and severity of the symptoms.

The variable penetrance of certain diseases has been a puzzle for years. Even in the case of diseases with a strong genetic base, it happens that individuals with the same anomalies have different symptoms. The reason has always been unclear. Because? According to the researchers, the genetic variants that regulate gene activation also influence the way they occur.

Many previous studies had focused only on coding variants or only those in gene regulation. The team of Dr. Lappalainen instead examined both types of variants, treating them as one group. To this end, the researchers analyzed the data obtained from the Genotype-Tissue Expression (GTEx) project.

At first, they evaluated the interactions between regulatory and coding variants in healthy people. They have discovered a particular kind of combinations that protect against the penetrance of harmful variants. It is likely that it is a defense system developed through natural selection, to combat genetic diseases.

Later, researchers repeated analyzes of a group of patients with genetic diseases. In particular, they examined the DNA of individuals with autism and tumors and their families. They identified the presence of the combinations mentioned above and, thanks to these data, predicted the penetrance of diseases.

Subsequent tests with CRISPR / Cas9 confirmed the mechanism identified with the previous analyzes. The discovery could improve the diagnosis of many genetic diseases. Thanks to this combination of variants, it may be possible to predict if a certain anomaly will degenerate or remain silent.

Source: eurekalert.org

Genes useful for protein coding are less than expected: 20% of the human genome would be "useless". This portion would consist of sequences fallen into disuse or without meaning. The discovery comes from the Spanish National Cancer Research Center (CNIO) and could have a major practical impact. In fact, it will influence research on genetic diseases and tumors, also influencing the therapies.

In 2003, the human DNA map was completed. The map included 20,000 coding genes, that is, involved in the production of proteins. The CNIO decided to verify the reliability of this number. For this purpose he compared the data contained in the three most important databases in the world: GENCODE / Ensembl, RefSeq and UniProtKB.

Put together the three databases contain all 22,210 coded genes, but only 19,446 are present in all three. The researchers then examined the remaining 2,764, comparing the data with experimental evidence and annotations from other researchers. It turned out that they were almost all non-coding or pseudogenes. At this point they also examined the other genes, finding that 1,470 considered coding may not be.

The genome would have 20% more non-coding genes than what was expected in 2003. For the time being, researchers have analyzed in detail only part of the genome. To date, the "downgraded" genes have been 300, some of which are also very studied. There are about 100 publications concerning these genes, which give them certainty that they are coding. A clue to how important this discovery could be for medical research on genetic diseases and cancers.

Source: ansa.it